December 2019 Newsletter
2019 Year In Review Video
Message from the Executive Director
Family Service Update | 2019 Memorials | Family Conference
Newborn Screening Update | Clinical Trial Update
Fundraising & Awareness Events
Upcoming Events | Stay Connected With Us
Click here to take a look back on our memories of 2019. Thank you for sharing your year with us. We look forward to sharing 2020 with you.
Dear Friends and Families,
As we wind down 2019 I would like to take a moment to thank the Niemann-Pick community for your support of NNPDF. Your participation in our programs and forums, your candor about the NP journey, and your willingness to help us continue to support Niemann-Pick families are deeply appreciated.
Thank you to everyone who participated in our inaugural Family Advisory Working Groups – sharing your viewpoints, experiences of caretaking and daily living, and the impact that Niemann-Pick disease has on your family provided valuable insight for our industry partners.
Thank you for joining us at our annual Family Support & Medical Conference to unite as a community, learn together, support one another, and create memories together.
Thank you giving of your time to NNPDF and thank you for showing your belief in our mission by supporting us through your donations.
Thank you for participating in our Industry Update Webinar Series and our Community Webinars. These webinars were designed to bring you access to the latest clinical updates and important community news. We surpassed our numbers in live views of the webinars and also in numbers of views by the global NPD families once the webinars were posted to our website the following day.
Thank you for communicating your needs to us to help us build our Family Services program and for expressing your most pressing issues which we offered support for in our Family Services Connections Chats.
Thank you for making others in the community aware of our Emergency Hardship Program which has allowed to help many families with financial assistance in just the few months since we began.
Thank you to the NNPDF Board of Directors and Scientific Advisory Board for your commitment of your time, energy, ideas, and resources to continually improve our ability to support Niemann-Pick families, at all stages of their journey, and to deliver unbiased up-to-date information on advances in the science of Niemann-Pick disease.
We aren’t slowing down for the coming year. 2020 will bring even more vitally needed family services and patient advocacy to the Niemann-Pick community, including the first US Health Insurance Survey ever conducted in our community which will allow us to better understand the needs of our community, the burden of access our community faces, and what services are needed to help the community better navigate the complex systems. All this while maintaining our commitment to enroll US families in the INPDR and supporting research in a meaningful way.
Sending you warm wishes for the holiday season,
Joslyn Crowe, MSW, MA
NNPDF Executive Director
When I started in August of 2018, NNPDF had launched a pilot Family Service Program in response to the growing needs of patients and families. As we moved into 2019, our program has grown to fulfill many of the unmet needs of our community, guided by the organization’s mission statement and vision for the future. I am honored to be a part of the continued growth of NNPDF.
Over the past 12 months, we’ve implemented several new programs including Family Connections Chats. I loved being able to spend time with member on our video calls. Stay tuned in 2020 for more topics- and remember that your input is always welcome on important areas you think we should cover.
Expanding the Family Connection Chat series is amongst our goals for 2020. We will begin offering a monthly support group led by trained therapists. To meet the diverse needs that families face and the different experiences encountered around loss in the Niemann-Pick journey we intend to offer several tracks:
- A group for late onset NPC families
- A group for newly diagnosed families
- A group for legacy families whose loved ones have past.
These support groups will be limited to a small number of people and will require a commitment to attend the virtual meetings for the entire 6-8 session series. Working with a trained professional, guidance and support will be provided to discuss legacy and loss and to help your healing process. If you are interesting in committing to one of these support groups, please let me know let me know..
In July we launched the new Emergency Hardship Program and have already helped eight families in the short period of time since we began. Through this program, we have assisted families with rent, burial expenses, utility bills, durable medical goods denied by insurance, and care registration payment. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges. Please reach out if you would like more information.
As always, please feel free to reach out to me via phone at 603-413-8707 or email email@example.com. I value your input and suggestions. Thank you for your continued involvement with NNPDF and our efforts to support all families through their journey. I look forward to continuing to build relationships with each of you throughout 2020.
Laurie J. Turner
Family Services Manager
As 2019 comes to a close, we remember not only the families of those we’ve lost, but of those that remain. Please join the NNPDF in keeping all of our families in our thoughts now and throughout the year.
Mark your calendars for the 2020 Family Support and Medical Conference! Conference program dates are July 9 – 11, 2020 in San Antonio, Texas, with a SPECIAL EVENT you don’t want to miss on Sunday, July 12th.
Sunday, July 12th, the NNPDF is planning a Family Fun Day at Morgan’s Wonderland, Ultra-Accessible Theme Park. This is a time for families and friends to gather and HAVE FUN in a worry free environment. Morgan’s Wonderland was designed with special-needs individuals in mind and built for everyone’s enjoyment. Morgan’s Wonderland offers 25 ultra-accessible™ attractions, sprawled across a 25-acre oasis of inclusion. From a wheelchair-accessible Ferris wheel to catch-and-release fishing, there is truly something for everyone to enjoy!
The NNPDF has posted an Agenda at a Glance for our conference programming overview. More details will be provided in upcoming days. In the meantime, please include Sunday, July 12th in your family conference travel plans! Click here to learn more about Morgan’s Wonderland and all is has to offer.
Wrapping Up Year of Progress: Advancing Newborn Screening for NPC
Firefly Fund’s Newborn Screening Working Group completed its final meeting of the year in December – the Annual Stakeholder Meeting. While in Washington, DC, the Working Group reviewed the year’s activities and set sights on key research and advocacy activities for 2020. Key activities for the past year included a series of Working Group calls, the first annual NPC Clinical Roundtable, the first NPC community webinar delivered in partnership with the NNPDF, and major community presentations.
Significantly, we were also proud to announce the inclusion of NPC in the ScreenPlus pilot newborn screening study in New York, the largest consented multi-disorder newborn screening pilot study ever conducted in the United States.
Key external speakers at the stakeholder meeting included representatives from the Association of Public Health Laboratories and the American College of Medical Genetics and Genomics. Leaders from both groups discussed key barriers and opportunities we can expect to face on the path to adding NPC to newborn screening lists nationwide. Experts outlined what the NPC community will need to demonstrate in terms of “readiness” for routine newborn screening – such as having an accurate screen and effective treatment options. They also described challenges in the public health system that could delay adoption – such as having a provider group that can manage patients and enough capacity in state labs to add an additional test.
Looking ahead, Firefly is excited to welcome additional supporters to the NPC NBS Initiative, broadening stakeholder support for the effort from industry, the NPC Community and NPC/NBS experts. Learn more here.
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Updates from Cyclo Therapeutics:
Cyclo Therapeutics to present clinical trial data on Niemann-Pick Type C at 2020 WORLDSymposium. Click here for complete announcement.
Update from Orphazyme:
Orphazyme shares update on early access program (EAP) for arimoclomol. Click here for complete announcement.
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease. Click here to view current and past fundraising and awareness events.
THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at firstname.lastname@example.org to let us know.
Yankee Candle Fundraiser
Yankee Candle Online Fundraiser in memory of Bryanna Desouza and in honor of all Niemann-Pick Disease families ENDS JANUARY 8, 2020. Click here for complete details.
Bryanna Desouza (Jan 20, 1992 – Dec 5, 2006) NPC.
Jamberry Niemann-Pick Disease Nail Wraps
Show your support in the fight against Niemann-Pick Disease with these custom Jamberry nail wraps. 30% of all sales will be donated to the National Niemann-Pick Disease Foundation for family support services. Click here for ordering details. Available year round.
Have you hosted a fundraiser for NNPDF recently?
Send us your photos and we’ll share them and details from your event in upcoming newsletters!
Check out our Upcoming Events page at nnpdf.org/news-media/upcoming-events/.
NNPDF Industry Update Webinar Series
Dates coming soon!
Rare Disease Day
February 28 | Watch for details!
NNPDF Family Support & Medical Conference 2020
July 9-12 | San Antonio, Texas
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